SPENCDI
MCID: SPN251
MIFTS: 42

Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloenchondrodysplasia with Immune Dysregulation

MalaCards integrated aliases for Spondyloenchondrodysplasia with Immune Dysregulation:

Name: Spondyloenchondrodysplasia with Immune Dysregulation 57 20 43 72 36 29 13 6 70
Spencd 57 20 58 72
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 57 43 72
Spondyloenchondrodysplasia 20 58 70
Spencdi 57 43 72
Spondylometaphyseal Dysplasia with Enchondromatous Changes 20 58
Roifman Immunoskeletal Syndrome 57 72
Spondyloenchondromatosis 20 58
Sem 20 17
Spondyloenchondrodysplasia, with Immune Dysregulation 39
Roifman-Melamed Syndrome 43
Roifman-Costa Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
spondyloenchondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset, from infancy to 15 years
marked clinical variability, both within and between families
variable severity, from infantile death due to autoimmune thrombocytopenia to isolated skeletal dysplasia in adult patient


HPO:

31
spondyloenchondrodysplasia with immune dysregulation:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset congenital onset childhood onset


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Spondyloenchondrodysplasia with Immune Dysregulation

MedlinePlus Genetics : 43 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence.Bone abnormalities in individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on the long bones and spinal bones that can be seen on x-rays. Additional skeletal problems occur because of abnormalities of the tough, flexible tissue called cartilage that makes up much of the skeleton during early development. Individuals with SPENCDI often have areas where cartilage did not convert to bone. They may also have noncancerous growths of cartilage (enchondromas). The bone and cartilage problems contribute to short stature in people with SPENCDI.Individuals with SPENCDI have a combination of immune system problems. Many affected individuals have malfunctioning immune systems that attack the body's own tissues and organs, which is known as an autoimmune reaction. The malfunctioning immune system can lead to a variety of disorders, such as a decrease in blood cells called platelets (thrombocytopenia), premature destruction of red blood cells (hemolytic anemia), an underactive thyroid gland (hypothyroidism), or chronic inflammatory disorders such as systemic lupus erythematosus or rheumatoid arthritis. In addition, affected individuals often have abnormal immune cells that cannot grow and divide in response to harmful invaders such as bacteria and viruses. As a result of this immune deficiency, these individuals have frequent fevers and recurrent respiratory infections.Some people with SPENCDI have neurological problems such as abnormal muscle stiffness (spasticity), difficulty with coordinating movements (ataxia), and intellectual disability. They may also have abnormal deposits of calcium (calcification) in the brain.Due to the range of immune system problems, people with SPENCDI typically have a shortened life expectancy, but figures vary widely.

MalaCards based summary : Spondyloenchondrodysplasia with Immune Dysregulation, also known as spencd, is related to metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria and singleton-merten syndrome, and has symptoms including muscle spasticity An important gene associated with Spondyloenchondrodysplasia with Immune Dysregulation is ACP5 (Acid Phosphatase 5, Tartrate Resistant). Affiliated tissues include bone, brain and kidney, and related phenotypes are platyspondyly and metaphyseal dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1855 Definition Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies ( short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement ( spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

OMIM® : 57 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. (607944) (Updated 05-Apr-2021)

KEGG : 36 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease resembling systemic lupus erythematosus (SLE) are commonly observed. Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence of TRAP serum expression and, in keeping with autoimmune manifestations, increased levels of serum interferon-alpha (IFNalpha) and an upregulation of interferon-stimulated genes (ISGs).

UniProtKB/Swiss-Prot : 72 Spondyloenchondrodysplasia with immune dysregulation: A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone.

Related Diseases for Spondyloenchondrodysplasia with Immune Dysregulation

Diseases related to Spondyloenchondrodysplasia with Immune Dysregulation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 11.0
2 singleton-merten syndrome 10.9
3 hair whorl 10.5
4 periodontitis 10.3
5 allergic disease 10.2
6 spondyloepimetaphyseal dysplasia, strudwick type 10.1
7 immune deficiency disease 10.1
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
9 basal ganglia calcification 10.1
10 metaphyseal dysplasia 10.1
11 malignant hypertension 10.1
12 cerebral palsy 10.1
13 autoimmune hepatitis 10.1
14 glomerulonephritis 10.1
15 iga glomerulonephritis 10.1
16 proliferative glomerulonephritis 10.1
17 mesangial proliferative glomerulonephritis 10.1
18 lupus erythematosus 10.1
19 dwarfism 10.1
20 enamel erosion 10.1
21 d-2-hydroxyglutaric aciduria 1 10.1
22 2-hydroxyglutaric aciduria 10.1
23 root resorption 10.0
24 gallbladder disease 1 10.0
25 keratoconus 10.0
26 dental caries 10.0
27 benign mesothelioma 10.0
28 nephrolithiasis 10.0
29 overgrowth syndrome 10.0
30 thrombocytopenia 10.0
31 skeletal dysplasias 10.0
32 nephrolithiasis, calcium oxalate 9.9
33 retinal detachment 9.9
34 periodontitis, chronic 9.9
35 aging 9.9
36 bone resorption disease 9.9
37 enamel caries 9.9
38 amelogenesis imperfecta 9.9
39 cataract 9.9
40 decubitus ulcer 9.9
41 odontoma 9.9
42 pseudoachondroplasia 9.9
43 short-rib thoracic dysplasia 1 with or without polydactyly 9.9
44 systemic lupus erythematosus 9.9
45 polymyositis 9.9
46 hypothyroidism 9.9
47 systemic scleroderma 9.9
48 spasticity 9.9
49 glioma susceptibility 1 9.8
50 hypercholesterolemia, familial, 1 9.8

Graphical network of the top 20 diseases related to Spondyloenchondrodysplasia with Immune Dysregulation:



Diseases related to Spondyloenchondrodysplasia with Immune Dysregulation

Symptoms & Phenotypes for Spondyloenchondrodysplasia with Immune Dysregulation

Human phenotypes related to Spondyloenchondrodysplasia with Immune Dysregulation:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly 58 31 very rare (1%) Very frequent (99-80%) HP:0000926
2 metaphyseal dysplasia 58 31 very rare (1%) Very frequent (99-80%) HP:0100255
3 spasticity 58 31 very rare (1%) Frequent (79-30%) HP:0001257
4 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
5 chronic kidney disease 58 31 frequent (33%) Frequent (79-30%) HP:0012622
6 anti-dsdna antibody positivity 31 frequent (33%) HP:0020151
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 cerebral calcification 58 31 very rare (1%) Occasional (29-5%) HP:0002514
9 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
10 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
11 global developmental delay 58 31 very rare (1%) Occasional (29-5%) HP:0001263
12 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
13 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
14 disproportionate short-trunk short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003521
15 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
16 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
17 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
18 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
19 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
20 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
21 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
22 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882
23 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
24 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
25 limb undergrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009826
26 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
27 raynaud phenomenon 58 31 very rare (1%) Occasional (29-5%) HP:0030880
28 enchondroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030038
29 hypoplastic ilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000946
30 autoimmune hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001890
31 autoimmune thrombocytopenia 58 31 very rare (1%) Occasional (29-5%) HP:0001973
32 systemic lupus erythematosus 58 31 very rare (1%) Occasional (29-5%) HP:0002725
33 juvenile rheumatoid arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005681
34 bowing of the legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002979
35 lower limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012514
36 abnormality of lateral ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0030047
37 granuloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0032252
38 kyphosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002808
39 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
40 pectus carinatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000768
41 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
42 vitiligo 58 31 very rare (1%) Very rare (<4-1%) HP:0001045
43 skin rash 58 31 very rare (1%) Very rare (<4-1%) HP:0000988
44 midface retrusion 58 31 very rare (1%) Very rare (<4-1%) HP:0011800
45 pneumonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002090
46 pancytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001876
47 antinuclear antibody positivity 58 31 very rare (1%) Very frequent (99-80%) HP:0003493
48 frontal bossing 31 very rare (1%) HP:0002007
49 scoliosis 31 very rare (1%) HP:0002650
50 recurrent respiratory infections 31 very rare (1%) HP:0002205

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
spastic diplegia
cns calcifications, esp. basal ganglia, on ct scan
progressive spastic quadriparesis
mild mental retardation (in some patients)

Head And Neck Ears:
low-set ears
otitis media, multiple episodes

Skeletal Spine:
kyphoscoliosis
platyspondyly
irregular vertebral endplates
increased lumbar lordosis
posterior vertebral body radiolucencies

Immunology:
lymphadenopathy
combined humoral and cellular immunodeficiency
recurrent infections (pneumonia, sinusitis, fulminant varicella)
autoimmune disorders (i.e., itp, juvenile rheumatoid arthritis (jra), hypothyroidism, crohn disease)
decreased t cell response to mitogens
more
Skin Nails Hair Skin:
hyperpigmented macules
hypopigmented skin patches on arms (vitiligo)

Respiratory:
recurrent respiratory tract infections (upper and lower)

Skin Nails Hair Hair:
normal hair shaft morphology

Growth Height:
short stature

Hematology:
thrombocytopenia
idiopathic thrombocytopenic purpura (itp)

Respiratory Lung:
pneumonia
restrictive lung disease
interstitial fibrosis

Skeletal:
spondylometaphyseal dysplasia

Head And Neck Nose:
narrow, pointy nose

Skeletal Limbs:
symmetric radiolucencies in long bone metaphyses
sclerotic, irregular metaphyses (distal radii and ulnae, distal femurs, proximal fibulae)

Endocrine Features:
hypothyroidism (autoimmune)

Clinical features from OMIM®:

607944 (Updated 05-Apr-2021)

UMLS symptoms related to Spondyloenchondrodysplasia with Immune Dysregulation:


muscle spasticity

Drugs & Therapeutics for Spondyloenchondrodysplasia with Immune Dysregulation

Search Clinical Trials , NIH Clinical Center for Spondyloenchondrodysplasia with Immune Dysregulation

Genetic Tests for Spondyloenchondrodysplasia with Immune Dysregulation

Genetic tests related to Spondyloenchondrodysplasia with Immune Dysregulation:

# Genetic test Affiliating Genes
1 Spondyloenchondrodysplasia with Immune Dysregulation 29 ACP5

Anatomical Context for Spondyloenchondrodysplasia with Immune Dysregulation

MalaCards organs/tissues related to Spondyloenchondrodysplasia with Immune Dysregulation:

40
Bone, Brain, Kidney, Lung, T Cells

Publications for Spondyloenchondrodysplasia with Immune Dysregulation

Articles related to Spondyloenchondrodysplasia with Immune Dysregulation:

(show all 32)
# Title Authors PMID Year
1
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. 6 57 61
26951490 2016
2
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency. 57 6
26789720 2016
3
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene. 6 57
26346816 2015
4
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. 57 6
21217755 2011
5
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. 57 6
21217752 2011
6
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation. 57 6
18924170 2008
7
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. 57 6
16470600 2006
8
A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. 57 6
12786759 2003
9
Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. 57 6
2363422 1990
10
[A case of infantile generalized lupus erythematosus with unusual bone changes]. 57 6
13524805 1958
11
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]. 57 61
17497723 2007
12
Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations. 6
27718324 2017
13
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. 6
27125509 2016
14
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature. 57
26854080 2016
15
Enchondromatosis: insights on the different subtypes. 57
20661403 2010
16
A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. 57
17163538 2007
17
Autosomal dominant inheritance of spondyloenchondrodysplasia. 57
15887273 2005
18
Spondyloenchondrodysplasia: clinical variability in three cases. 57
15214014 2004
19
Spondyloenchondrodysplasia: several phenotypes--the same syndrome. 57
9716637 1998
20
Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome. 57
1882681 1991
21
Generalized enchondromatosis in a boy with only platyspondyly in the father. 57
2063903 1991
22
Spondyloenchondrodysplasia. 57
2918547 1989
23
[Spondylo-enchondrodysplasia]. 57
3999058 1985
24
[Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)]. 57
7463391 1980
25
Two peculiar types of enchondromatosis. 57
733398 1978
26
Spondylometaphyseal dysplasia in two sibs of normal parents. 57
673535 1978
27
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers. 57
1244645 1976
28
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation. 61
33712926 2021
29
A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome. 61
31286717 2019
30
[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review]. 61
30078244 2018
31
Genetic analysis of leukocyte type-I interferon production and risk of coronary artery disease. 61
25882064 2015
32
Monogenic autoimmunity. 61
22224765 2012

Variations for Spondyloenchondrodysplasia with Immune Dysregulation

ClinVar genetic disease variations for Spondyloenchondrodysplasia with Immune Dysregulation:

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACP5 , ZNF627 NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) SNV Pathogenic 573309 rs781199182 GRCh37: 19:11687150-11687150
GRCh38: 19:11576335-11576335
2 ACP5 , ZNF627 NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) SNV Pathogenic 29832 rs781199182 GRCh37: 19:11687150-11687150
GRCh38: 19:11576335-11576335
3 ACP5 , ZNF627 NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) SNV Pathogenic 29833 rs781050795 GRCh37: 19:11687595-11687595
GRCh38: 19:11576780-11576780
4 ACP5 , ZNF627 NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) SNV Pathogenic 29835 rs387906672 GRCh37: 19:11687191-11687191
GRCh38: 19:11576376-11576376
5 ACP5 , ZNF627 NM_001611.5(ACP5):c.131C>T (p.Thr44Met) SNV Pathogenic 225657 rs369804864 GRCh37: 19:11688002-11688002
GRCh38: 19:11577187-11577187
6 ACP5 NM_001611.5(ACP5):c.816dup (p.Lys273fs) Duplication Pathogenic 225658 rs879255600 GRCh37: 19:11685986-11685987
GRCh38: 19:11575171-11575172
7 ACP5 NM_001611.5(ACP5):c.772_790del (p.Ser258fs) Deletion Pathogenic 225659 rs878853218 GRCh37: 19:11686013-11686031
GRCh38: 19:11575198-11575216
8 ACP5 , ZNF627 NM_001611.5(ACP5):c.623_624TG[1] (p.Trp209fs) Microsatellite Pathogenic 803522 rs1599634435 GRCh37: 19:11687167-11687168
GRCh38: 19:11576352-11576353
9 ACP5 , ZNF627 NM_001611.5(ACP5):c.44_65del (p.Leu15fs) Deletion Pathogenic 953742 GRCh37: 19:11688068-11688089
GRCh38: 19:11577253-11577274
10 ACP5 NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) SNV Pathogenic 533474 rs761798208 GRCh37: 19:11686065-11686065
GRCh38: 19:11575250-11575250
11 ACP5 , ZNF627 NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) SNV Pathogenic 29829 rs387906668 GRCh37: 19:11687654-11687654
GRCh38: 19:11576839-11576839
12 ACP5 , ZNF627 NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) SNV Pathogenic 29830 rs387906669 GRCh37: 19:11687126-11687126
GRCh38: 19:11576311-11576311
13 ACP5 NM_001611.5(ACP5):c.736-2A>G SNV Pathogenic 1031092 GRCh37: 19:11686069-11686069
GRCh38: 19:11575254-11575254
14 ACP5 NM_001611.5(ACP5):c.831_833del (p.Tyr278del) Deletion Pathogenic 29834 rs387906671 GRCh37: 19:11685970-11685972
GRCh38: 19:11575155-11575157
15 ACP5 NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) SNV Conflicting interpretations of pathogenicity 848294 GRCh37: 19:11685839-11685839
GRCh38: 19:11575024-11575024
16 ACP5 NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) SNV Conflicting interpretations of pathogenicity 198455 rs147025508 GRCh37: 19:11685989-11685989
GRCh38: 19:11575174-11575174
17 ACP5 NM_001611.5(ACP5):c.791T>A (p.Met264Lys) SNV Uncertain significance 29831 rs387906670 GRCh37: 19:11686012-11686012
GRCh38: 19:11575197-11575197
18 ACP5 , ZNF627 NM_001611.5(ACP5):c.262-14T>C SNV Uncertain significance 1032630 GRCh37: 19:11687672-11687672
GRCh38: 19:11576857-11576857
19 ACP5 , ZNF627 NM_001611.5(ACP5):c.682C>G (p.Leu228Val) SNV Uncertain significance 1032631 GRCh37: 19:11687111-11687111
GRCh38: 19:11576296-11576296
20 ACP5 , ZNF627 NM_001611.5(ACP5):c.413G>A (p.Arg138His) SNV Uncertain significance 1036040 GRCh37: 19:11687380-11687380
GRCh38: 19:11576565-11576565
21 ACP5 NM_001611.5(ACP5):c.851G>A (p.Gly284Glu) SNV Uncertain significance 1040415 GRCh37: 19:11685952-11685952
GRCh38: 19:11575137-11575137
22 ACP5 NM_001611.5(ACP5):c.804G>T (p.Lys268Asn) SNV Uncertain significance 1041817 GRCh37: 19:11685999-11685999
GRCh38: 19:11575184-11575184
23 ACP5 , ZNF627 NM_001611.5(ACP5):c.619C>A (p.Pro207Thr) SNV Uncertain significance 1045633 GRCh37: 19:11687174-11687174
GRCh38: 19:11576359-11576359
24 ACP5 , ZNF627 NM_001611.5(ACP5):c.290G>A (p.Arg97His) SNV Uncertain significance 573978 rs777140546 GRCh37: 19:11687630-11687630
GRCh38: 19:11576815-11576815
25 ACP5 NM_001611.5(ACP5):c.757G>A (p.Val253Met) SNV Uncertain significance 855765 GRCh37: 19:11686046-11686046
GRCh38: 19:11575231-11575231
26 ACP5 , ZNF627 NM_001611.5(ACP5):c.249C>G (p.Asp83Glu) SNV Uncertain significance 942253 GRCh37: 19:11687884-11687884
GRCh38: 19:11577069-11577069
27 ACP5 , ZNF627 NM_001611.5(ACP5):c.261+6T>C SNV Uncertain significance 957661 GRCh37: 19:11687866-11687866
GRCh38: 19:11577051-11577051
28 ACP5 , ZNF627 NM_001611.5(ACP5):c.17C>T (p.Ala6Val) SNV Uncertain significance 955959 GRCh37: 19:11688116-11688116
GRCh38: 19:11577301-11577301
29 ACP5 , ZNF627 NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) SNV Uncertain significance 959705 GRCh37: 19:11687120-11687120
GRCh38: 19:11576305-11576305
30 ACP5 NM_001611.5(ACP5):c.815G>A (p.Arg272His) SNV Uncertain significance 968501 GRCh37: 19:11685988-11685988
GRCh38: 19:11575173-11575173
31 ACP5 NC_000019.10:g.(?_11574990)_(11577337_?)dup Duplication Uncertain significance 831036 GRCh37: 19:11685805-11688152
GRCh38:
32 ACP5 , ZNF627 NM_001611.5(ACP5):c.652C>T (p.His218Tyr) SNV Uncertain significance 837166 GRCh37: 19:11687141-11687141
GRCh38: 19:11576326-11576326
33 ACP5 , ZNF627 NM_001611.5(ACP5):c.731T>C (p.Leu244Pro) SNV Uncertain significance 842843 GRCh37: 19:11687062-11687062
GRCh38: 19:11576247-11576247
34 ACP5 , ZNF627 NM_001611.5(ACP5):c.544C>T (p.Arg182Cys) SNV Uncertain significance 847141 GRCh37: 19:11687249-11687249
GRCh38: 19:11576434-11576434
35 ACP5 , ZNF627 NM_001611.5(ACP5):c.578C>A (p.Ala193Glu) SNV Uncertain significance 942062 GRCh37: 19:11687215-11687215
GRCh38: 19:11576400-11576400
36 ACP5 , ZNF627 NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) SNV Uncertain significance 944192 GRCh37: 19:11687161-11687161
GRCh38: 19:11576346-11576346
37 ACP5 , ZNF627 NM_001611.5(ACP5):c.694G>A (p.Gly232Arg) SNV Uncertain significance 950108 GRCh37: 19:11687099-11687099
GRCh38: 19:11576284-11576284
38 ACP5 , ZNF627 NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) SNV Uncertain significance 951531 GRCh37: 19:11687147-11687147
GRCh38: 19:11576332-11576332
39 ACP5 NM_001611.5(ACP5):c.824C>T (p.Pro275Leu) SNV Uncertain significance 951603 GRCh37: 19:11685979-11685979
GRCh38: 19:11575164-11575164
40 ACP5 , ZNF627 NM_001611.5(ACP5):c.622G>A (p.Val208Met) SNV Uncertain significance 1001130 GRCh37: 19:11687171-11687171
GRCh38: 19:11576356-11576356
41 ACP5 , ZNF627 NM_001611.5(ACP5):c.517G>A (p.Glu173Lys) SNV Uncertain significance 1004654 GRCh37: 19:11687276-11687276
GRCh38: 19:11576461-11576461
42 ACP5 , ZNF627 NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) SNV Uncertain significance 566480 rs528748445 GRCh37: 19:11687895-11687895
GRCh38: 19:11577080-11577080
43 ACP5 , ZNF627 NM_001611.5(ACP5):c.61G>C (p.Gly21Arg) SNV Uncertain significance 841591 GRCh37: 19:11688072-11688072
GRCh38: 19:11577257-11577257
44 ACP5 , ZNF627 NM_001611.5(ACP5):c.715G>A (p.Gly239Ser) SNV Uncertain significance 850520 GRCh37: 19:11687078-11687078
GRCh38: 19:11576263-11576263
45 ACP5 , ZNF627 NM_001611.5(ACP5):c.277G>A (p.Val93Ile) SNV Uncertain significance 852539 GRCh37: 19:11687643-11687643
GRCh38: 19:11576828-11576828
46 ACP5 , ZNF627 NM_001611.5(ACP5):c.545G>A (p.Arg182His) SNV Uncertain significance 861813 GRCh37: 19:11687248-11687248
GRCh38: 19:11576433-11576433
47 ACP5 , ZNF627 NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) SNV Uncertain significance 941379 GRCh37: 19:11687264-11687264
GRCh38: 19:11576449-11576449
48 ACP5 , ZNF627 NM_001611.5(ACP5):c.542C>A (p.Ala181Asp) SNV Uncertain significance 1018400 GRCh37: 19:11687251-11687251
GRCh38: 19:11576436-11576436
49 ACP5 NM_001611.5(ACP5):c.919A>T (p.Ile307Phe) SNV Uncertain significance 1019052 GRCh37: 19:11685884-11685884
GRCh38: 19:11575069-11575069
50 ACP5 , ZNF627 NM_001611.5(ACP5):c.393C>G (p.Asn131Lys) SNV Uncertain significance 1023982 GRCh37: 19:11687400-11687400
GRCh38: 19:11576585-11576585

UniProtKB/Swiss-Prot genetic disease variations for Spondyloenchondrodysplasia with Immune Dysregulation:

72
# Symbol AA change Variation ID SNP ID
1 ACP5 p.Lys52Met VAR_065920
2 ACP5 p.Thr89Ile VAR_065921 rs387906668
3 ACP5 p.Gly109Arg VAR_065922 rs781050795
4 ACP5 p.Leu201Pro VAR_065923 rs387906672
5 ACP5 p.Gly215Arg VAR_065924 rs781199182
6 ACP5 p.Asp241Asn VAR_065925
7 ACP5 p.Asn262His VAR_065926 rs144985748
8 ACP5 p.Met264Lys VAR_065927 rs387906670

Expression for Spondyloenchondrodysplasia with Immune Dysregulation

Search GEO for disease gene expression data for Spondyloenchondrodysplasia with Immune Dysregulation.

Pathways for Spondyloenchondrodysplasia with Immune Dysregulation

GO Terms for Spondyloenchondrodysplasia with Immune Dysregulation

Sources for Spondyloenchondrodysplasia with Immune Dysregulation

3 CDC
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71 UMLS via Orphanet
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